These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

185 related articles for article (PubMed ID: 22713831)

  • 41. Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.
    Valayannopoulos V; Bakouh N; Mazzuca M; Nonnenmacher L; Hubert L; Makaci FL; Chabli A; Salomons GS; Mellot-Draznieks C; Brulé E; de Lonlay P; Toulhoat H; Munnich A; Planelles G; de Keyzer Y
    J Inherit Metab Dis; 2013 Jan; 36(1):103-12. PubMed ID: 22644605
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.
    DesRoches CL; Patel J; Wang P; Minassian B; Salomons GS; Marshall CR; Mercimek-Mahmutoglu S
    Gene; 2015 Jul; 565(2):187-91. PubMed ID: 25861866
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Phenotypic variability in a portuguese family with x-linked creatine transport deficiency.
    Garcia P; Rodrigues F; Valongo C; Salomons GS; Diogo L
    Pediatr Neurol; 2012 Jan; 46(1):39-41. PubMed ID: 22196490
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Laboratory diagnosis of defects of creatine biosynthesis and transport.
    Verhoeven NM; Salomons GS; Jakobs C
    Clin Chim Acta; 2005 Nov; 361(1-2):1-9. PubMed ID: 16169544
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: a case report.
    Alessandrì MG; Strigini F; Cioni G; Battini R
    BMC Pregnancy Childbirth; 2020 Sep; 20(1):506. PubMed ID: 32883247
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Deletion of the Creatine Transporter (Slc6a8) in Dopaminergic Neurons Leads to Hyperactivity in Mice.
    Abdulla ZI; Pahlevani B; Lundgren KH; Pennington JL; Udobi KC; Seroogy KB; Skelton MR
    J Mol Neurosci; 2020 Jan; 70(1):102-111. PubMed ID: 31520365
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Treatment of intractable epilepsy in a female with SLC6A8 deficiency.
    Mercimek-Mahmutoglu S; Connolly MB; Poskitt KJ; Horvath GA; Lowry N; Salomons GS; Casey B; Sinclair G; Davis C; Jakobs C; Stockler-Ipsiroglu S
    Mol Genet Metab; 2010 Dec; 101(4):409-12. PubMed ID: 20846889
    [TBL] [Abstract][Full Text] [Related]  

  • 48. [A family with creatine transporter deficiency diagnosed with urinary creatine/creatinine ratio and the family history: the third Japanese familial case].
    Nozaki F; Kumada T; Shibata M; Fujii T; Wada T; Osaka H
    No To Hattatsu; 2015 Jan; 47(1):49-52. PubMed ID: 25803912
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Creatine deficiency syndromes.
    Schulze A
    Mol Cell Biochem; 2003 Feb; 244(1-2):143-50. PubMed ID: 12701824
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.
    Arias A; Corbella M; Fons C; Sempere A; García-Villoria J; Ormazabal A; Poo P; Pineda M; Vilaseca MA; Campistol J; Briones P; Pàmpols T; Salomons GS; Ribes A; Artuch R
    Clin Biochem; 2007 Nov; 40(16-17):1328-31. PubMed ID: 17825809
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.
    Thurm A; Himelstein D; DʼSouza P; Rennert O; Jiang S; Olatunji D; Longo N; Pasquali M; Swedo S; Salomons GS; Carrillo N
    J Dev Behav Pediatr; 2016 May; 37(4):322-6. PubMed ID: 27096572
    [TBL] [Abstract][Full Text] [Related]  

  • 52. GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.
    Mercimek-Mahmutoglu S; Stoeckler-Ipsiroglu S; Adami A; Appleton R; Araújo HC; Duran M; Ensenauer R; Fernandez-Alvarez E; Garcia P; Grolik C; Item CB; Leuzzi V; Marquardt I; Mühl A; Saelke-Kellermann RA; Salomons GS; Schulze A; Surtees R; van der Knaap MS; Vasconcelos R; Verhoeven NM; Vilarinho L; Wilichowski E; Jakobs C
    Neurology; 2006 Aug; 67(3):480-4. PubMed ID: 16855203
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
    Stockler-Ipsiroglu S; van Karnebeek C; Longo N; Korenke GC; Mercimek-Mahmutoglu S; Marquart I; Barshop B; Grolik C; Schlune A; Angle B; Araújo HC; Coskun T; Diogo L; Geraghty M; Haliloglu G; Konstantopoulou V; Leuzzi V; Levtova A; Mackenzie J; Maranda B; Mhanni AA; Mitchell G; Morris A; Newlove T; Renaud D; Scaglia F; Valayannopoulos V; van Spronsen FJ; Verbruggen KT; Yuskiv N; Nyhan W; Schulze A
    Mol Genet Metab; 2014 Jan; 111(1):16-25. PubMed ID: 24268530
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Disorders of creatine transport and metabolism.
    Longo N; Ardon O; Vanzo R; Schwartz E; Pasquali M
    Am J Med Genet C Semin Med Genet; 2011 Feb; 157C(1):72-8. PubMed ID: 21308988
    [TBL] [Abstract][Full Text] [Related]  

  • 55. A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging.
    Baroncelli L; Molinaro A; Cacciante F; Alessandrì MG; Napoli D; Putignano E; Tola J; Leuzzi V; Cioni G; Pizzorusso T
    Hum Mol Genet; 2016 Oct; 25(19):4186-4200. PubMed ID: 27466184
    [TBL] [Abstract][Full Text] [Related]  

  • 56. RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.
    Nota B; Ndika JD; van de Kamp JM; Kanhai WA; van Dooren SJ; van de Wiel MA; Pals G; Salomons GS
    Hum Mutat; 2014 Sep; 35(9):1128-35. PubMed ID: 24962355
    [TBL] [Abstract][Full Text] [Related]  

  • 57. [Cerebral creatine deficiency syndromes].
    Malheiro R; Diogo L; Garcia P; Fineza I; Oliveira G
    Acta Med Port; 2012; 25(6):389-98. PubMed ID: 23534590
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Presence of normal creatine in the muscle of a patient with a mutation in the creatine transporter: a case study.
    Pyne-Geithman GJ; deGrauw TJ; Cecil KM; Chuck G; Lyons MA; Ishida Y; Clark JF
    Mol Cell Biochem; 2004 Jul; 262(1-2):35-9. PubMed ID: 15532707
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Myocellular creatine and creatine transporter serine phosphorylation after starvation.
    Zhao CR; Shang L; Wang W; Jacobs DO
    J Surg Res; 2002 Jun; 105(1):10-6. PubMed ID: 12069495
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Creatine deficiency in the brain: a new, treatable inborn error of metabolism.
    Stöckler S; Holzbach U; Hanefeld F; Marquardt I; Helms G; Requart M; Hänicke W; Frahm J
    Pediatr Res; 1994 Sep; 36(3):409-13. PubMed ID: 7808840
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.